Body Stalk Anomaly

Reference work entry

Body stalk anomaly, sometimes also called limb body wall complex, is a rare abdominal wall defect due to failure of the development of the body stalk. Prevalence is estimated to be 0.32 per 10,000 births.

Synonyms and Related Disorders

Limb body wall complex

Genetics/Basic Defects

  1. 1.

    Sporadic occurrence in most cases, although concordance in twins has been reported

  2. 2.
    Failure in body folding in cranial, caudal, and lateral axes during the embryonic stage of development (Hiett et al. 1992)
    1. a.
      Abnormalities of cranial folding leading to pentalogy of Cantrell consisting of the following:
      1. i.

        Cardiac abnormalities

      2. ii.

        Sternal cleft

      3. iii.

        Upper abdominal defect

      4. iv.

        Anterior diaphragmatic hernia

      5. v.

        Deficiency of the diaphragmatic pericardium

    2. b.
      Abnormalities of caudal folding leading to the following:
      1. i.

        Cloacal exstrophy

      2. ii.

        Hypogastric omphalocele

      3. iii.

        Imperforate anus

      4. iv.

        Partial colonic agenesis

      5. v.

        Agenesis of one umbilical artery

    3. c.

      Abnormalities of lateral...


Abdominal Wall Defect Imperforate Anus Intestinal Atresia Cloacal Exstrophy Maternal Uniparental Disomy 
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